Case Report

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

10.4274/jcrpe.galenos.2019.2019.0023

  • Esra Isik
  • Huseyin Onay
  • Tahir Atik
  • Asli Ece Solmaz
  • Samim Ozen
  • Ozgur Cogulu
  • Sukran Darcan
  • Ferda Ozkinay

Received Date: 07.02.2019 Accepted Date: 14.04.2019 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 31088041

Neurofibromatosis Noonan Syndrome (NFNS) is a rare RASopathy syndrome, resulted from NF1 gene mutations. NFNS is characterized by phenotypic features of both Neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas are an unusual finding of NFNS. A 7 year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Regarding dysmorphic features a clinical diagnosis of NFNS was considered in the patient, and following molecular analysis revealed a novel heterozygous c.3052_3056delTTAGT (p.L1018X) variant in NF1 gene. Although evaluation for genital virilization including karyotype and hormonal studies were resulted normal, imaging studies revealed a diffuse genital plexiform neurofibroma. Although plexiform neurofibromas are seen rarely, should be considered in the differential diagnosis of genital virilization in NFNS patients to prevent unnecessary laboratory tests.

Keywords: Neurofibromatosis Noonan Syndrome; NF1 gene; abnormal external genitalia